• 1
    Malloy PJ, Feldman D. Genetic disorders and defects in vitamin D action. Endocrinol Metab Clin North Am. 2010;39:3336.
  • 2
    Malloy PJ, Pike JW, Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr Rev. 1999;20:15688.
  • 3
    Malloy PJ, Pike JW, Feldman D. Hereditary 1,25-dihydroxyvitamin D resistant rickets. In: Feldman D, Pike JW, Glorieux F, editors. Vitamin D 2nd ed. San Diego: Elsevier; pp. 120738. 2005.
  • 4
    Weisman Y, Bab I, Gazit D, Spirer Z, Jaffe M, Hochberg Z. Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am J Med. 1987;83:98490.
  • 5
    Balsan S, Garabédian M, Larchet M, Gorski AM, Cournot G, Tau C, Bourdeau A, Silve C, Ricour C. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. J Clin Invest. 1986;77:16617.
  • 6
    al-Aqeel A, Ozand P, Sobki S, Sewairi W, Marx S. The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). Clin Endocrinol (Oxf). 1993;39:22937.
  • 7
    Hochberg Z, Tiosano D, Even L. Calcium therapy for calcitriol-resistant rickets. J Pediatr. 1992;121:8038.
  • 8
    Tiosano D, Hochberg Z. Hypophosphatemia: the common denominator of all rickets. J Bone Miner Metab. 2009;27:392401.
  • 9
    Alon US, Levy-Olomucki R, Moore WV, Stubbs J, Liu S, Quarles LD. Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. Clin. J Am Soc Nephrol. 2008;3:65864.
  • 10
    Muscheites J, Wigger M, Drueckler E, Fischer DC, Kundt G, Haffner D. Cinacalcet for secondary hyperparathyroidism in children with end-stage renal disease. Pediatr Nephrol. 2008;23:18239.
  • 11
    Silverstein DM, Kher KK, Moudgil A, Khurana M, Wilcox J, Moylan K. Cinacalcet is efficacious in pediatric dialysis patients. Pediatr Nephrol. 2008;23:181722.
  • 12
    Alon US, Van De Voorde RG, Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. Pediatr Nephrol. 2010;25:174750.
  • 13
    Malloy PJ, Wang J, Srivastava T, Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. Mol Genet Metab. 2010;99:729.
  • 14
    Portale A, Miller WL. Rickets due to hereditary abnormalities of vitamin D synthesis or action. In: Glorieux F, Pettifor J, Juppner H, editors. Pediatric Bone: Biology & Diseases. San Diego: Academic Press (Harcourt); 583602. 2003.
  • 15
    Xue Y, Fleet JC. Intestinal vitamin D receptor is required for normal calcium and bone metabolism in mice. Gastroenterology. 2009;136:131727.
  • 16
    Feldman D, Malloy PJ. Hereditary 1,25-dihydroxyvitamin D resistant rickets: molecular basis and implications for the role of 1,25(OH)2D3 in normal physiology. Mol Cell Endocrinol. 1990;72:C5762.
  • 17
    Ma NS, Malloy PJ, Pitukcheewanont P, Dreimane D, Geffner ME, Feldman D. Hereditary vitamin D resistant rickets: Identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. Bone. 2009;45:7436.